Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

Prenatal Diagnosis

Volumn 27, Issue 7, 2007, Pages 662-664

  Reches, Adi ^a   Yaron, Yuval ^a,b,c   Burdon, Kathryn ^d   Crystal Shalit, Ornit ^e   Kidron, Dvora ^e   Malcov, Mira ^a   Tepper, Ron ^c,e  

^a LIS MATERNITY HOSPITAL   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d FLINDERS UNIVERSITY   (Australia)

^e MEIR MEDICAL CENTER   (Israel)

Author keywords

Congenital cataract; Nance Horan syndrome; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; NANCE HORAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; CATARACT; FEMALE; HUMANS; MALE; NUCLEAR PROTEINS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34547156990     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1734     Document Type: Article

References (11)

1. Bixler D, Higgens M, Hartsfield J Jr. 1984. The Nance-Horan syndrome: a rare X-linked ocular dental trait with expression in heterozygous females. Clin Genet 26: 30-35.
2. Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. 2004. Identification of the gene for Nance-Horan syndrome (NHS). J Med Genet 41: 768-771.
3. Burdon KP, McKay JD, Sale MM, et al. 2003. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 73: 1120-1130.
4. Cartlidge PH, Rutter N. 1988. Reduction of head flattening in preterm infants. Arch Dis Child 63(7): (Spec No): 755-757.
5. Francis PJ, Berry V, Bhattacharya SS, Moore AT. 2000. The genetics of childhood cataract. J Med Genet 37: 481-488.
6. Horan MB. 1974. X-linked cataract and hutchinsonian teeth. Aust Paediatr J 10: 98-102.
7. Ian R. 1990. Walpole The Nance-Horan syndrome. J Med Genet 27: 632-634.
8. Mashiach R, Vardimon D, Kaplan B, Shalev J, Meizner I. 2004. Early sonographic detection of recurrent eye anomalies. Ultrasound Obstet Gynecol 24(6): 640-643.
9. Nance WE, Warburg M, Bixler D. 1974. Congenital X linked cataract, dental anomalis and brachymetacarpalia. Birth Defects Orig Artic Ser 10(4): 285-291.
10. Toutain A, Ayrault AD, Moraine C. 1997. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. Am J Med Genet 71(3): 305-314.
11. Van Dorp DB, Delleman JW. 1979. A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. J Pediatr Ophthalmol Strabismus 16: 166-171.